KEGG   PATHWAY: ray04950
Entry
ray04950                    Pathway                                
Name
Maturity onset diabetes of the young - Rousettus aegyptiacus (Egyptian rousette)
Description
About 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MODY).
We now know that MODY is caused by heterozygous mutations in at least five genes encoding transcription factors: HNF4alpha (MODY1), HNF1alpha (MODY3), PDX1 (MODY4), HNF1beta (MODY5) and NEUROD1 (MODY6). MODY2, which is so far the only subtype not related to a transcription factor, is caused by mutations in the glucokinase gene. Mutations of MODY transcription factor genes lead to abnormal expression of genes involved in pancreatic islet development and metabolism.
Class
Human Diseases; Endocrine and metabolic disease
Pathway map
ray04950  Maturity onset diabetes of the young
ray04950

Organism
Rousettus aegyptiacus (Egyptian rousette) [GN:ray]
Gene
107514009  HHEX; hematopoietically-expressed homeobox protein HHEX [KO:K08024]
107518865  MNX1; LOW QUALITY PROTEIN: motor neuron and pancreas homeobox protein 1 [KO:K08025]
107515161  ONECUT1; hepatocyte nuclear factor 6 [KO:K08026]
107516508  PDX1; pancreas/duodenum homeobox protein 1 [KO:K07594]
107513639  NR5A2; nuclear receptor subfamily 5 group A member 2 isoform X1 [KO:K08027]
107504099  NEUROG3; neurogenin-3 [KO:K08028]
107516382  NKX2-2; homeobox protein Nkx-2.2 [KO:K08029]
107516442  NKX6-1; homeobox protein Nkx-6.1 [KO:K08030]
107512006  PAX6; paired box protein Pax-6 isoform X1 [KO:K08031]
107500565  PAX4; paired box protein Pax-4 [KO:K08032]
107520621  NEUROD1; neurogenic differentiation factor 1 [KO:K08033]
107520188  RFX6; DNA-binding protein RFX6 [KO:K19521]
107505922  HES1; transcription factor HES-1 [KO:K06054]
107503309  HNF1B; hepatocyte nuclear factor 1-beta isoform X1 [KO:K08034]
107516390  FOXA2; hepatocyte nuclear factor 3-beta isoform X1 [KO:K08035]
107507887  MAFA; LOW QUALITY PROTEIN: transcription factor MafA [KO:K07595]
107514572  HNF4A; hepatocyte nuclear factor 4-alpha isoform X1 [KO:K07292]
107501254  HNF1A; hepatocyte nuclear factor 1-alpha isoform X1 [KO:K08036]
107515170  HNF4G; hepatocyte nuclear factor 4-gamma isoform X1 [KO:K08037]
107516057  FOXA3; hepatocyte nuclear factor 3-gamma [KO:K08038]
107521461  PKLR; pyruvate kinase PKLR isoform X1 [KO:K12406] [EC:2.7.1.40]
107501411  SLC2A2; solute carrier family 2, facilitated glucose transporter member 2 isoform X1 [KO:K07593]
107513269  INS; insulin isoform X1 [KO:K04526]
107508559  IAPP; islet amyloid polypeptide [KO:K08039]
107512383  GCK; glucokinase isoform X1 [KO:K12407] [EC:2.7.1.2]
107515901  BHLHA15; LOW QUALITY PROTEIN: class A basic helix-loop-helix protein 15 [KO:K08040]
Reference
PMID:15298336
  Authors
Servitja JM, Ferrer J.
  Title
Transcriptional networks controlling pancreatic development and beta cell function.
  Journal
Diabetologia 47:597-613 (2004)
DOI:10.1007/s00125-004-1368-9
Reference
PMID:15604203
  Authors
Habener JF, Kemp DM, Thomas MK.
  Title
Minireview: transcriptional regulation in pancreatic development.
  Journal
Endocrinology 146:1025-34 (2005)
DOI:10.1210/en.2004-1576
Reference
PMID:15028942
  Authors
Ashizawa S, Brunicardi FC, Wang XP.
  Title
PDX-1 and the pancreas.
  Journal
Pancreas 28:109-20 (2004)
DOI:10.1097/00006676-200403000-00001
Reference
PMID:14614204
  Authors
Yamagata K.
  Title
Regulation of pancreatic beta-cell function by the HNF transcription network: lessons from maturity-onset diabetes of the young (MODY).
  Journal
Endocr J 50:491-9 (2003)
DOI:10.1507/endocrj.50.491
Related
pathway
ray04910  Insulin signaling pathway
ray04930  Type II diabetes mellitus
KO pathway
ko04950   
LinkDB

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